Mutagenetix > Incidental Mutation

Incidental Mutation 'R9061:Klk15'

688976

Institutional Source

Beutler Lab

Gene Symbol

Klk15

Ensembl Gene

ENSMUSG00000055193

Gene Name

kallikrein related-peptidase 15

Synonyms

MMRRC Submission

068887-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R9061 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43583164-43589063 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43587790 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 73 (H73Y)

Ref Sequence

ENSEMBL: ENSMUSP00000066969 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068625]

AlphaFold

Q8CGR4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068625
AA Change: H73Y

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000066969
Gene: ENSMUSG00000055193
AA Change: H73Y

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
Tryp_SPc	19	247	4.05e-93	SMART

Predicted Effect

Meta Mutation Damage Score

0.1468

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (60/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. In prostate cancer, this gene has increased expression, which indicates its possible use as a diagnostic or prognostic marker for prostate cancer. The gene contains multiple polyadenylation sites and alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930518I15Rik	A	G	2: 156,699,133 (GRCm39)	M1T	probably null	Het
Abca13	A	G	11: 9,227,847 (GRCm39)	E630G	probably benign	Het
Abcf2	T	A	5: 24,778,504 (GRCm39)	H218L	possibly damaging	Het
Abo	A	T	2: 26,733,395 (GRCm39)	M268K	probably benign	Het
Ankrd33	G	T	15: 101,014,029 (GRCm39)		probably benign	Het
Apc	G	C	18: 34,446,251 (GRCm39)	R1049T	probably damaging	Het
Atg16l2	T	C	7: 100,941,338 (GRCm39)	K412E	probably damaging	Het
Cachd1	G	A	4: 100,809,202 (GRCm39)		probably null	Het
Ccdc152	T	G	15: 3,330,643 (GRCm39)	K11Q	probably damaging	Het
Ccdc38	T	A	10: 93,401,735 (GRCm39)	W232R	probably damaging	Het
Cluh	C	T	11: 74,551,192 (GRCm39)	P347L	possibly damaging	Het
Cntn3	A	G	6: 102,314,288 (GRCm39)	L142P	probably damaging	Het
Ctnnd2	T	A	15: 30,806,884 (GRCm39)	M601K	probably damaging	Het
D930048N14Rik	G	A	11: 51,545,734 (GRCm39)	D209N	unknown	Het
Dcaf6	A	T	1: 165,164,332 (GRCm39)	N814K	probably damaging	Het
Dhx8	A	T	11: 101,632,406 (GRCm39)	D455V	possibly damaging	Het
Fcna	A	C	2: 25,514,956 (GRCm39)	L301W	possibly damaging	Het
Garin1b	C	T	6: 29,323,902 (GRCm39)	T209I	probably benign	Het
Gdf9	T	G	11: 53,324,269 (GRCm39)	C13G	probably damaging	Het
Hells	T	A	19: 38,933,858 (GRCm39)	N226K	probably damaging	Het
Hes6	A	G	1: 91,340,061 (GRCm39)	S132P	probably damaging	Het
Ifi207	A	T	1: 173,564,153 (GRCm39)		probably benign	Het
Ighv16-1	A	T	12: 114,032,504 (GRCm39)	Y99*	probably null	Het
Kirrel2	T	C	7: 30,150,305 (GRCm39)	I508V	probably benign	Het
Klhl38	T	A	15: 58,186,022 (GRCm39)	I236F	probably damaging	Het
Lamc1	A	T	1: 153,126,870 (GRCm39)	C425*	probably null	Het
Letm1	A	G	5: 33,918,213 (GRCm39)	F311L	probably damaging	Het
Lypd11	A	T	7: 24,422,173 (GRCm39)	I192N	possibly damaging	Het
Mapk8ip2	T	C	15: 89,342,016 (GRCm39)	V409A	possibly damaging	Het
Mybpc1	C	T	10: 88,391,501 (GRCm39)	C318Y	probably damaging	Het
Myo15a	A	G	11: 60,393,692 (GRCm39)	Y1141C		Het
Ndufv2	T	A	17: 66,390,475 (GRCm39)	D165V	probably damaging	Het
Nrde2	T	C	12: 100,110,123 (GRCm39)	K303E	probably benign	Het
Nup205	T	A	6: 35,196,808 (GRCm39)		probably benign	Het
Or1j12	A	G	2: 36,342,897 (GRCm39)	Q100R	probably damaging	Het
Or2f2	A	T	6: 42,767,141 (GRCm39)	H56L	probably damaging	Het
Or5b118	A	G	19: 13,448,523 (GRCm39)	N21S	probably damaging	Het
Otof	C	T	5: 30,546,001 (GRCm39)	V451I	possibly damaging	Het
Pask	G	A	1: 93,253,191 (GRCm39)	Q399*	probably null	Het
Pbk	T	A	14: 66,049,439 (GRCm39)	F39I	probably benign	Het
Pdzd2	T	C	15: 12,374,753 (GRCm39)	K1794R	possibly damaging	Het
Pibf1	T	C	14: 99,424,069 (GRCm39)		probably null	Het
Ppip5k2	G	A	1: 97,645,187 (GRCm39)	T1089I	probably damaging	Het
Ppp1cb	T	A	5: 32,635,492 (GRCm39)	F45L	possibly damaging	Het
Pramel21	T	G	4: 143,342,741 (GRCm39)	S283A	possibly damaging	Het
Samd4	T	C	14: 47,301,728 (GRCm39)	F344S	probably damaging	Het
Slc2a13	C	T	15: 91,234,333 (GRCm39)	M334I	possibly damaging	Het
Slc37a1	C	T	17: 31,556,365 (GRCm39)	A363V	probably damaging	Het
Slc8a3	T	A	12: 81,263,540 (GRCm39)	I616F	probably damaging	Het
Srcin1	A	G	11: 97,427,206 (GRCm39)	L257P	probably damaging	Het
Tarbp1	A	G	8: 127,173,880 (GRCm39)	F945L	probably damaging	Het
Thbs4	A	T	13: 92,911,187 (GRCm39)		probably null	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Trim62	G	A	4: 128,802,963 (GRCm39)	V338M	probably damaging	Het
Ttll9	C	T	2: 152,818,113 (GRCm39)	H20Y	possibly damaging	Het
Uevld	A	T	7: 46,587,806 (GRCm39)	I298N	probably damaging	Het
Zan	T	C	5: 137,462,653 (GRCm39)	E842G	probably damaging	Het
Zdbf2	T	G	1: 63,346,296 (GRCm39)	S1558R		Het

Other mutations in Klk15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01778:Klk15	APN	7	43,588,262 (GRCm39)	missense	probably damaging	1.00
IGL03113:Klk15	APN	7	43,587,805 (GRCm39)	missense	probably benign	0.00
R0562:Klk15	UTSW	7	43,588,269 (GRCm39)	nonsense	probably null
R1768:Klk15	UTSW	7	43,587,757 (GRCm39)	splice site	probably benign
R4093:Klk15	UTSW	7	43,588,204 (GRCm39)	missense	possibly damaging	0.67
R5859:Klk15	UTSW	7	43,587,800 (GRCm39)	missense	probably benign	0.17
R5899:Klk15	UTSW	7	43,588,247 (GRCm39)	missense	probably benign	0.02
R5907:Klk15	UTSW	7	43,588,183 (GRCm39)	missense	probably benign	0.16
R7781:Klk15	UTSW	7	43,588,980 (GRCm39)	missense	probably benign	0.44
R9029:Klk15	UTSW	7	43,587,790 (GRCm39)	missense	possibly damaging	0.90
R9030:Klk15	UTSW	7	43,587,790 (GRCm39)	missense	possibly damaging	0.90
R9058:Klk15	UTSW	7	43,587,790 (GRCm39)	missense	possibly damaging	0.90
R9059:Klk15	UTSW	7	43,587,790 (GRCm39)	missense	possibly damaging	0.90
R9105:Klk15	UTSW	7	43,587,790 (GRCm39)	missense	possibly damaging	0.90
R9173:Klk15	UTSW	7	43,587,790 (GRCm39)	missense	possibly damaging	0.90
R9174:Klk15	UTSW	7	43,587,790 (GRCm39)	missense	possibly damaging	0.90
R9175:Klk15	UTSW	7	43,587,790 (GRCm39)	missense	possibly damaging	0.90
R9228:Klk15	UTSW	7	43,587,790 (GRCm39)	missense	possibly damaging	0.90
R9231:Klk15	UTSW	7	43,587,790 (GRCm39)	missense	possibly damaging	0.90
R9235:Klk15	UTSW	7	43,587,790 (GRCm39)	missense	possibly damaging	0.90
R9236:Klk15	UTSW	7	43,587,790 (GRCm39)	missense	possibly damaging	0.90
R9331:Klk15	UTSW	7	43,587,790 (GRCm39)	missense	possibly damaging	0.90
R9523:Klk15	UTSW	7	43,587,770 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- ATGGGACTCCTGAGCTACTTC -3'
(R):5'- CTCACCGATAAGAGGGCAAC -3'

Sequencing Primer
(F):5'- GCTCTAGAACTCACCGTGTAG -3'
(R):5'- AGGGCAACGTCTGGGCAG -3'

Posted On

2021-11-19